List of variants reported as pathogenic for amino acid metabolism disease by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.136246220_136254271del
NM_000159.4(GCDH):c.731del (p.Gly244fs)	rs878853244
NM_000531.6(OTC):c.72_77+18del	rs863225061
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs)	rs878853248
NM_014251.3(SLC25A13):c.495del (p.Ala166fs)	rs879255504
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	rs746155190

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